A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371318



Internal ID22596987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:42496457..42496591hg38UCSC Ensembl
chr15:42788655..42788789hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5940957
Supporting Variants
Samples
Known GenesSNAP23
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371318
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003


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